A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549206



Internal ID16336615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:217145253..217151312hg38UCSC Ensembl
Innerchr1:217318595..217324654hg19UCSC Ensembl
Innerchr1:215385218..215391277hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg386060
hg196060
hg186060
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1174048
SamplesHGDP01015
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549206
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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